keyword
MENU ▼
Read by QxMD icon Read
search

Congenital cataract

keyword
https://www.readbyqxmd.com/read/29349523/prognostic-factors-of-pediatric-glaucoma-a-retrospective-study
#1
Marilita M Moschos, Eirini Nitoda, Isabelle Fenzel, Xuefei Song, Achim Langenbucher, Barbara Kaesmann, Berthold Seitz, Zisis Gatzioufas
PURPOSE: To correlate the features of certain types of infantile glaucoma with the progression and the prognosis of the disease, highlighting probable risk factors. METHODS: Seventy-six patients with pediatric glaucoma were recruited in this retrospective study. All patients underwent ophthalmological examination in the Department of Ophthalmology of the Saarland University Medical Center from January 2001 to December 2012. Our pediatric patients were classified into four different categories of glaucoma: (1) primary congenital glaucoma (presenting buphthalmus), (2) aniridia-related glaucoma, (3) Peters/Rieger's anomaly-related glaucoma and (4) congenital cataract-related glaucoma...
January 18, 2018: International Ophthalmology
https://www.readbyqxmd.com/read/29346049/microphthalmia-corneal-dermoids-and-congenital-anomalies-resembling-goldenhar-syndrome-in-a-cat
#2
William Berkowski, Ingeborg Langohr, Anthony Pease, Joshua Bartoe
CASE DESCRIPTION An 18-month-old spayed female domestic shorthair cat was evaluated because of conjunctivitis and skin-fold dermatitis secondary to bilateral microphthalmia, corneal dermoids, and ankyloblepharon. CLINICAL FINDINGS Physical examination revealed bilateral microphthalmia, bilaterally symmetrical corneal dermoids, ankyloblepharon, superior and inferior entropion, prognathism, and facial asymmetry with deviation of the nasal septum. Computed tomography revealed malformed, thickened bony orbits with mineralization of the orbital ligament bilaterally...
February 1, 2018: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/29339916/pediatric-cataract-surgery-with-hydrophilic-acrylic-intraocular-lens-implantation-in-nepalese-children
#3
Srijana Adhikari, Ujjowala D Shrestha
Purpose: To assess the outcome of cataract surgery with hydrophilic acrylic intraocular lens (IOL) implantation in children with congenital and developmental cataracts. Method: A retrospective review of medical records of children with congenital or developmental cataracts who underwent cataract surgery with hydrophilic IOL implantation, from January 2011 to December 2014 in a tertiary eye hospital in Nepal. Primary posterior capsulotomy, anterior vitrectomy, and IOL implantation was done in children 8 years or younger, while older children underwent only lens aspiration and IOL implantation...
2018: Clinical Ophthalmology
https://www.readbyqxmd.com/read/29339498/mafa-missense-mutation-causes-familial-insulinomatosis-and-diabetes-mellitus
#4
Donato Iacovazzo, Sarah E Flanagan, Emily Walker, Rosana Quezado, Fernando Antonio de Sousa Barros, Richard Caswell, Matthew B Johnson, Matthew Wakeling, Michael Brändle, Min Guo, Mary N Dang, Plamena Gabrovska, Bruno Niederle, Emanuel Christ, Stefan Jenni, Bence Sipos, Maike Nieser, Andrea Frilling, Ketan Dhatariya, Philippe Chanson, Wouter W de Herder, Björn Konukiewitz, Günter Klöppel, Roland Stein, Márta Korbonits, Sian Ellard
The β-cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing MAFA variants have been previously described. We investigated a large pedigree with autosomal dominant inheritance of diabetes mellitus or insulinomatosis, an adult-onset condition of recurrent hyperinsulinemic hypoglycemia caused by multiple insulin-secreting neuroendocrine tumors of the pancreas. Using exome sequencing, we identified a missense MAFA mutation (p...
January 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29325388/-the-research-advances-of-microrna-184-and-related-ocular-diseases
#5
R R Zong, Y P Zhou, Z G Liu
microRNA-184 (miR-184) is a small, non-coding, endogenic RNA molecule of 22 nucleotides in length. It is a highly conserved sequence throughout many different species. Multiple studies have demonstrated that miR-184 is an important factor in regulating gene expression at the post-transcriptional level. miR-184 plays vital roles in many biological processes, including development and differentiation in many tissues and organs. Meanwhile, the research on the physiological and pathological role of miR-184 in eyes draws more and more attention lately...
December 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29325387/-clinical-effects-of-pediatric-penetrating-keratoplasty-for-congenital-corneal-opacity
#6
S W Li, C Liu, T H Chen, J H Ning, T Zhang, F J Lyu, M Xu
Objective: To report the clinical results of pediatric penetrating keratoplasty (PKP) in patients under 3 years old with congenital corneal opacity. Methods: Retrospective study. Sixteen eyes of 12 patients who were treated with PKP in Aier Eye Hospital Group from June 2009 to December 2016 were enrolled in this study. All the patients were diagnosed as congenital corneal opacities: 8 cases (11 eyes) with Peter's anomaly I, 2 cases (3 eyes) with sclerocornea, and 2 cases (2 eyes) with corneal dermoid tumor combined with iris synechia...
December 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29322749/time-reversed-ultrasonically-encoded-optical-focusing-through-highly-scattering-ex-vivo-human-cataractous-lenses
#7
Yan Liu, Yuecheng Shen, Haowen Ruan, Frank L Brodie, Terence T W Wong, Changhuei Yang, Lihong V Wang
Normal development of the visual system in infants relies on clear images being projected onto the retina, which can be disrupted by lens opacity caused by congenital cataract. This disruption, if uncorrected in early life, results in amblyopia (permanently decreased vision even after removal of the cataract). Doctors are able to prevent amblyopia by removing the cataract during the first several weeks of life, but this surgery risks a host of complications, which can be equally visually disabling. Here, we investigated the feasibility of focusing light noninvasively through highly scattering cataractous lenses to stimulate the retina, thereby preventing amblyopia...
January 2018: Journal of Biomedical Optics
https://www.readbyqxmd.com/read/29321356/the-connexin-46-mutant-v44m-impairs-gap-junction-function-causing-congenital-cataract
#8
Lijuan Chen, Dongmei Su, Sijia Li, Lina Guan, Cuige Shi, Dianjun Li, Shanshan Hu, Xu Ma
Connexin 46 (Cx46) is important for gap junction channels formation which plays crucial role in the preservation of lens homeostasis and transparency. Previously, we have identified a missense mutation (p.V44M) of Cx46 in a congenital cataract family. This study aims at dissecting the potential pathogenesis of the causative mutant of cataract. Plasmids carrying wild-type (wt) and mutant (V44M) of Cx46 were constructed and expressed in Hela cells respectively.Western blotting and fluorescence microscopy were applied to analyse the expression and subcellular localization of recombinant proteins, respectively...
December 2017: Journal of Genetics
https://www.readbyqxmd.com/read/29318381/-evaluation-of-the-medical-treatment-situation-of-the-visually-impaired-significant-differences-between-young-and-old
#9
M Oeverhaus, H Hirche, J Esser, A Eckstein, B Schaperdoth-Gerlings
BACKGROUND AND OBJECTIVE: Patients with irreversible visual impairment need individual visual rehabilitation to regain or improve reading ability and mobility. To analyze the prescription of low vision aids (LVA) and their relation to age, we performed a retrospective chart analysis of our specialized low vision outpatient clinic. METHODS: Patient charts of all patients who attended our low vision outpatient clinic from 2014-2016 were analyzed with respect to the diagnosis, visual acuity, magnification needs, age and prescribed or used LVA...
January 9, 2018: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/29314435/mutation-update-of-transcription-factor-genes-foxe3-hsf4-maf-and-pitx3-causing-cataracts-and-other-developmental-ocular-defects
#10
Deepti Anand, Smriti A Agrawal, Anne Slavotinek, Salil A Lachke
Mutations in the transcription factor genes FOXE3, HSF4, MAF, and PITX3 cause congenital lens defects including cataracts that may be accompanied by defects in other components of the eye or in non-ocular tissues. We comprehensively describe here all the variants in FOXE3, HSF4, MAF, and PITX3 genes linked to human developmental defects. A total of 52 variants for FOXE3, 18 variants for HSF4, 20 variants for MAF, and 19 variants for PITX3 identified so far in isolated cases or within families are documented...
January 4, 2018: Human Mutation
https://www.readbyqxmd.com/read/29300302/splicing-analysis-of-exonic-ocrl-mutations-causing-lowe-syndrome-or-dent-2-disease
#11
Lorena Suarez-Artiles, Ana Perdomo-Ramirez, Elena Ramos-Trujillo, Felix Claverie-Martin
Mutations in the OCRL gene are associated with both Lowe syndrome and Dent-2 disease. Patients with Lowe syndrome present congenital cataracts, mental disabilities and a renal proximal tubulopathy, whereas patients with Dent-2 disease exhibit similar proximal tubule dysfunction but only mild, or no additional clinical defects. It is not yet understood why some OCRL mutations cause the phenotype of Lowe syndrome, while others develop the milder phenotype of Dent-2 disease. Our goal was to gain new insights into the consequences of OCRL exonic mutations on pre-mRNA splicing...
January 4, 2018: Genes
https://www.readbyqxmd.com/read/29298900/cataract-associated-connexin-46-mutation-alters-its-interaction-with-calmodulin-and-function-of-hemichannels
#12
Zhengping Hu, Manuel A Riquelme, Bin Wang, Vladislav Bugay, Robert Brenner, Sumin Gu, Jean X Jiang
Connexin channels help maintain eye lens homeostasis and transparency. The G143R missense substitution in connexin (Cx) 46 is associated with congenital Coppock cataracts; however, the underlying molecular mechanism is largely unknown. Here, we report that compared with wild type (WT) Cx46, the G143R substitution abolishes hemichannel conductance in Xenopus oocytes and in HeLa cells. Moreover, this substitution is dominant-negative and inhibits conductance of WT Cx46. CD analysis indicated that the substitution greatly reduces the α-helical structure of the intracellular Cx46 loop domain...
January 3, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29259901/timing-and-approaches-in-congenital-cataract-surgery-a-four-year-two-layer-randomized-controlled-trial
#13
Hao-Tian Lin, Er-Ping Long, Jing-Jing Chen, Zhen-Zhen Liu, Zhuo-Ling Lin, Qian-Zhong Cao, Xia-Yin Zhang, Xiao-Hang Wu, Qi-Wei Wang, Duo-Ru Lin, Xiao-Yan Li, Jin-Chao Liu, Li-Xia Luo, Bo Qu, Wei-Rong Chen, Yi-Zhi Liu
AIM: To compare visual prognoses and postoperative adverse events of congenital cataract surgery performed at different times and using different surgical approaches. METHODS: In this prospective, randomized controlled trial, we recruited congenital cataract patients aged 3mo or younger before cataract surgery. Sixty-one eligible patients were randomly assigned to two groups according to surgical timing: a 3-month-old group and a 6-month-old group. Each eye underwent one of three randomly assigned surgical procedures, as follows: surgery A, lens aspiration (I/A); surgery B, lens aspiration with posterior continuous curvilinear capsulorhexis (I/A+PCCC); and surgery C, lens aspiration with posterior continuous curvilinear capsulorhexis and anterior vitrectomy (I/A+PCCC+A-Vit)...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/29259299/two-novel-mutations-identified-in-adcc-families-impair-crystallin-protein-distribution-and-induce-apoptosis-in-human-lens-epithelial-cells
#14
Li Li, Da-Bei Fan, Ya-Ting Zhao, Yun Li, De-Qian Kong, Fang-Fei Cai, Guang-Ying Zheng
Congenital cataract (CC) is a clinical and genetically heterogeneous eye disease that primarily causes lens disorder and even amblyopic blindness in children. As the mechanism underlying CC is genetically inherited, identification of CC-associated gene mutations and their role in protein distribution are topics of both pharmacological and biological research. Through physical and ophthalmic examinations, two Chinese pedigrees with autosomal dominant congenital cataract (ADCC) were recruited for this study. Mutation analyses of CC candidate genes by next-generation sequencing (NGS) and Sanger sequencing revealed a novel missense mutation in CRYBB2 (p...
December 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29258473/proteomics-analysis-and-proteogenomic-characterization-of-different-physiopathological-human-lenses
#15
Xiaohang Wu, Zhenzhen Liu, Xiayin Zhang, Dongni Wang, Erping Long, Jinghui Wang, Wangting Li, Weiyi Lai, Qianzhong Cao, Kunhua Hu, Weirong Chen, Haotian Lin, Yizhi Liu
BACKGROUND: The aim of the present study was to identify the proteomic differences among human lenses in different physiopathological states and to screen for susceptibility genes/proteins via proteogenomic characterization. METHODS: The total proteomes identified across the regenerative lens with secondary cataract (RLSC), congenital cataract (CC) and age-related cataract (ARC) groups were compared to those of normal lenses using isobaric tagging for relative and absolute protein quantification (iTRAQ)...
December 19, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/29243736/a-novel-missense-mutation-in-hsf4-causes-autosomal-dominant-congenital-lamellar-cataract-in-a-british-family
#16
V Berry, N Pontikos, A Moore, A C W Ionides, V Plagnol, M E Cheetham, M Michaelides
PurposeInherited cataract, opacification of the lens, is the most common worldwide cause of blindness in children. We aimed to identify the genetic cause of isolated autosomal-dominant lamellar cataract in a five-generation British family.MethodsWhole exome sequencing (WES) was performed on two affected individuals of the family and further validated by direct sequencing in family members.ResultsA novel missense mutation NM_001040667.2:c.190A>G;p.K64E was identified in the DNA-binding-domain of heat-shock transcription factor 4 (HSF4) and found to co-segregate with disease...
December 15, 2017: Eye
https://www.readbyqxmd.com/read/29226564/-lowe-syndrome-a-particularly-severe-phenotype-without-clinical-kidney-involvement
#17
Abdalla Etesam, El-Beheiry Ahmed, Dieterich Klaus, Thevenon Julien, Fauré Julien, Rendu John
Lowe syndrome (LS) is a very rare disorder of phosphatidylinositol metabolism, which manifests with a complex phenotype comprising a clinical triad encompassing major abnormalities of the eyes, the kidneys, and the central nervous system. We are reporting a 23-year-old Egyptian male with a severe phenotype of LS with a minimal kidney disease. Direct sequencing of the OCRL gene detected a p.His375Arg mutation in the catalytic domain of the protein. The patient suffered from bilateral congenital cataracts and glaucoma, striking growth deficiency, severe psychomotor disability, a severe osteopathy, and seizures, but only minimal renal dysfunction...
December 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29224249/pili-annulati-in-a-case-of-rothmund-thomson-syndrome-with-a-novel-frameshift-mutation-in-recql4
#18
B Bhoyrul, H Lindsay, R Robinson, J Stahlschmidt, T Palmer, S Edward, S M Clark
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterised by erythematous patches or plaques and sometimes swelling and blisters, which appear during infancy on photo-exposed sites, usually the cheeks, then progress to poikiloderma. Other features include gastrointestinal disturbance, short stature, sparse scalp hair/eyebrows/eyelashes, skeletal abnormalities, juvenile cataracts, hypogonadism and a susceptibility to malignancy. Two forms have been described: Type I, characterised by poikiloderma, ectodermal dysplasia and juvenile cataracts, negative for the RECQL4 mutation, and Type II, with poikiloderma, congenital bone defects and increased risk of osteosarcoma related to deleterious RECQL4 mutations...
December 10, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29222283/hereditary-thrombocytopenias-a-growing-list-of-disorders
#19
REVIEW
Patrizia Noris, Alessandro Pecci
The introduction of high throughput sequencing (HTS) techniques greatly improved the knowledge of inherited thrombocytopenias (ITs) over the last few years. A total of 33 different forms caused by molecular defects affecting at least 32 genes have been identified; along with the discovery of new disease-causing genes, pathogenetic mechanisms of thrombocytopenia have been better elucidated. Although the clinical picture of ITs is heterogeneous, bleeding has been long considered the major clinical problem for patients with IT...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29222017/increasing-susceptibility-to-oxidative-stress-by-cataract-causing-crystallin-mutations
#20
Wei-Jie Zhao, Yong-Bin Yan
Cataract, a crystallin protein aggregation disease, is the leading cause of human blindness worldwide. Congenital cataract may be induced by many factors and genetic disorders accounts for about half of the cases. Inherited mutations can promote cataract formation by affecting crystallin structure, solubility, stability, protein interactions and aggregatory propensity. In this research, we investigated the potential role of oxidative damage in congenital cataracts caused by six mutations in γC- and γD-crystallins, the predominant structural proteins in the lens...
December 5, 2017: International Journal of Biological Macromolecules
keyword
keyword
46385
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"